A pregnancy following PGD for X-linked autosomal dominant Incontinentia Pigmenti (Bloch-Sulzberger syndrome)

Human Reproduction

Volumn 15, Issue 12, 2000, Pages 2650-2652

  Pettigrew, Rachel ^a   Kuo, Hung Chih ^a   Scriven, Paul ^a   Rowell, Paula ^a   Pal, Kalyani ^a   Handyside, Alan ^a,b   Braude, Peter ^a   Ogilvie, Caroline Mackie ^a  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

Incontinentia Pigmenti; Preimplantation genetic diagnosis; Sex selection; Trisomy 16

Indexed keywords

ADULT; ARTICLE; CASE REPORT; DISEASE CARRIER; FEMALE; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; INCONTINENTIA PIGMENTI; PREGNANCY; PREGNANCY RATE; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; SEX DETERMINATION; X CHROMOSOME LINKED DISORDER;

EID: 0034531982     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/15.12.2650     Document Type: Article

References (16)

1. Clinical experience with preimplantation genetic diagnosis of cystic fibrosis (delta F508)
2. Incontinentia pigmenti: A world statistical analysis
3. Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients
4. Screening oocytes and preimplantation embryos for aneuploidy
5. Mosaicism of autosomes and sex chromosomes in morphologically normal, monospermic preimplantation human embryos
6. Two cases of X/autosome translocations in females with Incontinentia Pigmenti
7. Chromosomal mosaicism in cleavage-stage human embryos and the accuracy of single-cell genetic analysis
8. Biopsy of the human blastocyst and polymerase chain reaction (PCR) amplification of the beta-globin gene and a dinucleotide repeat motif from 2-6 trophectoderm cells
9. Embryo morphology, developmental rates and maternal age are correlated with chromosome abnormalities
10. Case report: Unusually high rates of aneuploid embryos in a 28 year old woman with incontinentia pigmenti
11. Incontinentia Pigmenti in a boy with Klinefelter's syndrome
12. Linkage studies do not confirm the cytogenetic location of Incontinentia Pigmenti on Xp11
13. The gene for Incontinentia Pigmenti is assigned to Xq28
14. Assessing congenital anomalies after preimplantation genetic diagnosis